Ontology highlight
ABSTRACT:
SUBMITTER: Salehpour S
PROVIDER: S-EPMC5329763 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Salehpour Shadab S Hashemi-Gorji Feyzollah F Soltani Ziba Z Ghafouri-Fard Soudeh S Miryounesi Mohammad M
Iranian journal of child neurology 20170101 1
Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. Most affected individuals also have Hirschsprung disease and/or gyral abnormalities of the brain. This syndrome has been associated with KIAA1279 gene mutations at 10q22.1. Here we report a 16 yr old male patient referred to Center for Comprehensive Genetic Services, Tehran, Iran in 2015 wi ...[more]